Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Gort
L
L
Institut de Bioquímica Clínica, Corporació Sanitària, Cerdanyola del Vallès, Barcelona, Spain.
Coll
M J
MJ
Chabás
A
A
D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D013030:Spain
D004247:DNA; D007066:Iduronate Sulfatase